title: Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
abstract: We present two case reports in which an HBD mutation is present with a rare α hemoglobinopathy that substantially complicates the associated phenotype. In the first case, a new δ-globin variant, Hb A2-Pierre-Bénite [δ83(EF7)Gly→Arg; HBD: c.250G>C] is associated with Hb Groene Hart [α119(H2)Pro→Ser (α1); HBA1: c.358C>T], an α-thalassemic variant. In the second case, a δ(+)-thalassemic variant, δ4(A1)Thr→Ile; HBD: c.14C>T, is associated with a newly described deletion of the hypersensitive site 40 (HS-40) region on the α-globin gene cluster. In both patients, a δ-globin mutation was suspected because of an abnormally low Hb A2 level, whereas the α hemoglobinopathy was sought to explain the slight microcytosis and hypochromia presented by the probands.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Caroline
authors.initials: C
authors.lastname: Garcia
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017085:alpha-Thalassemia / Q000235:genetics*; D055538:delta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C475066:hemoglobin Groene Hart; C056396:hemoglobin Pierre-Benite; C032001:hemoglobin D